microcephaly-cervical spine fusion anomalies syndrome
Findings
No curated finding names microcephaly-cervical spine fusion anomalies syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Microcephaly-cervical spine fusion anomalies syndrome is characterized by microcephaly, facial dysmorphism (beaked nose, low-set ears, downslanting palpebral fissures, micrognathia), mild intellectual deficit, short stature, and cervical spine fusion anomalies producing spinal cord compression. It has been described in two brothers born to consanguineous parents. Transmission is likely to be autosomal recessive.
Definition from the Mondo Disease Ontology (MONDO:0009621), read 2026-09-29. CC BY 4.0.
Features
26 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal reticulocyte morphologyHPOHP:0004312
- Very frequent (80% to 99% of cases)
- Abnormal rib morphologyHPOHP:0000772
- Very frequent (80% to 99% of cases)
- Convex nasal ridgeHPOHP:0000444
- Very frequent (80% to 99% of cases)
- Fused cervical vertebraeHPOHP:0002949
- Very frequent (80% to 99% of cases)
- HyperlordosisHPOHP:0003307
- Very frequent (80% to 99% of cases)
- Hyperplasia of midfaceHPOHP:0012371
- Very frequent (80% to 99% of cases)
Show the remaining 14
- Pectus excavatumHPOHP:0000767
- Very frequent (80% to 99% of cases)
- ProptosisHPOHP:0000520
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- Sloping foreheadHPOHP:0000340
- Very frequent (80% to 99% of cases)
- Spinal cord compressionHPOHP:0002176
- Very frequent (80% to 99% of cases)
- Abnormal clavicle morphologyHPOHP:0000889
- Frequent (30% to 79% of cases)